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UniProtKB - O15130 (NPFF_HUMAN)

Protein

Pro-FMRFamide-related neuropeptide FF

Gene

NPFF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Protein inferred from homologyi <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Morphine modulating peptides. Have wide-ranging physiologic effects, including the modulation of morphine-induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ASIC1 and ASIC3 channels.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • G protein-coupled receptor binding Source: GO_Central
  • neuropeptide hormone activity Source: GO_Central
  • signaling receptor binding Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionNeuropeptide

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-389397 Orexin and neuropeptides FF and QRFP bind to their respective receptors
R-HSA-416476 G alpha (q) signalling events

SIGNOR Signaling Network Open Resource

More...SIGNORi		O15130

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pro-FMRFamide-related neuropeptide FF
Alternative name(s):
FMRFamide-related peptides
Cleaved into the following 3 chains:
Neuropeptide SF
Short name:
NPSF
Neuropeptide FF
Short name:
NPFF
Neuropeptide AF
Short name:
NPAF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPFF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000139574.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:7901 NPFF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604643 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15130

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		8620

Open Targets

More...OpenTargetsi		ENSG00000139574

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31704

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NPFF

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000989821 – 65Add BLAST45
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_000000989966 – 76Neuropeptide SFAdd BLAST11
PeptideiPRO_000000990069 – 76Neuropeptide FF8
PropeptideiPRO_000000990179 – 92Add BLAST14
PeptideiPRO_000000990293 – 110Neuropeptide AFAdd BLAST18

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei76Phenylalanine amideBy similarity1
Modified residuei110Phenylalanine amideBy similarity1

Keywords - PTMi

Amidation, Cleavage on pair of basic residues

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15130

PRoteomics IDEntifications database

More...PRIDEi		O15130

ProteomicsDB human proteome resource

More...ProteomicsDBi		48466

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000139574 Expressed in 56 organ(s), highest expression level in cerebellum

CleanEx database of gene expression profiles

More...CleanExi		HS_NPFF

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15130 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114175, 1 interactor

Protein interaction database and analysis system

More...IntActi		O15130, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000267017

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O15130

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FARP (FMRFamide related peptide) family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410J2TH Eukaryota
ENOG410Z134 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000015021

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000113843

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG006519

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15130

KEGG Orthology (KO)

More...KOi		K05247

Identification of Orthologs from Complete Genome Data

More...OMAi		LIDQGCA

Database of Orthologous Groups

More...OrthoDBi		1435009at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15130

TreeFam database of animal gene trees

More...TreeFami		TF330924

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008065 NPFF

The PANTHER Classification System

More...PANTHERi		PTHR15044 PTHR15044, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15085 NPFF, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF038092 FMRFamid-rel_pep_precur, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01682 FMRFAMIDEPEP

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O15130-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDSRQAAALL VLLLLIDGGC AEGPGGQQED QLSAEEDSEP LPPQDAQTSG 
        60         70         80         90        100
SLLHYLLQAM ERPGRSQAFL FQPQRFGRNT QGSWRNEWLS PRAGEGLNSQ 
       110 
FWSLAAPQRF GKK
Length:113
Mass (Da):12,440
Last modified:January 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1E9D4ED2A69238E3
GO
Isoform 2 (identifier: O15130-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MDSRQAAALLVLLLLIDGGCAEGPGGQQEDQLSA → MVPQPPTTCPWKPVPSPCDLRVQGICPSSFPDTPLAQ

Note: No experimental confirmation available.
Show »
Length:116
Mass (Da):12,991
Checksum:i0E1EB094309C3105
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04918388W → R. Corresponds to variant dbSNP:rs35822762Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0564751 – 34MDSRQ…DQLSA → MVPQPPTTCPWKPVPSPCDL RVQGICPSSFPDTPLAQ in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF005271 mRNA Translation: AAB64288.1
AC023509 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96721.1
BC104234 mRNA Translation: AAI04235.1
BC104235 mRNA Translation: AAI04236.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8862.1 [O15130-1]

NCBI Reference Sequences

More...RefSeqi		NP_001307225.1, NM_001320296.1 [O15130-2]
NP_003708.1, NM_003717.3 [O15130-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.733076

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000267017; ENSP00000267017; ENSG00000139574 [O15130-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8620

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8620

UCSC genome browser

More...UCSCi		uc001sdw.1 human [O15130-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF005271 mRNA Translation: AAB64288.1
AC023509 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96721.1
BC104234 mRNA Translation: AAI04235.1
BC104235 mRNA Translation: AAI04236.1
CCDSiCCDS8862.1 [O15130-1]
RefSeqiNP_001307225.1, NM_001320296.1 [O15130-2]
NP_003708.1, NM_003717.3 [O15130-1]
UniGeneiHs.733076

3D structure databases

ProteinModelPortaliO15130
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114175, 1 interactor
IntActiO15130, 2 interactors
STRINGi9606.ENSP00000267017

Polymorphism and mutation databases

BioMutaiNPFF

Proteomic databases

PaxDbiO15130
PRIDEiO15130
ProteomicsDBi48466

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267017; ENSP00000267017; ENSG00000139574 [O15130-1]
GeneIDi8620
KEGGihsa:8620
UCSCiuc001sdw.1 human [O15130-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8620
DisGeNETi8620
EuPathDBiHostDB:ENSG00000139574.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		NPFF
HGNCiHGNC:7901 NPFF
MIMi604643 gene
neXtProtiNX_O15130
OpenTargetsiENSG00000139574
PharmGKBiPA31704

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410J2TH Eukaryota
ENOG410Z134 LUCA
GeneTreeiENSGT00390000015021
HOGENOMiHOG000113843
HOVERGENiHBG006519
InParanoidiO15130
KOiK05247
OMAiLIDQGCA
OrthoDBi1435009at2759
PhylomeDBiO15130
TreeFamiTF330924

Enzyme and pathway databases

ReactomeiR-HSA-389397 Orexin and neuropeptides FF and QRFP bind to their respective receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiO15130

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NPFF

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8620

Protein Ontology

More...PROi		PR:O15130

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000139574 Expressed in 56 organ(s), highest expression level in cerebellum
CleanExiHS_NPFF
GenevisibleiO15130 HS

Family and domain databases

InterProiView protein in InterPro
IPR008065 NPFF
PANTHERiPTHR15044 PTHR15044, 1 hit
PfamiView protein in Pfam
PF15085 NPFF, 1 hit
PIRSFiPIRSF038092 FMRFamid-rel_pep_precur, 1 hit
PRINTSiPR01682 FMRFAMIDEPEP

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNPFF_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15130
Secondary accession number(s): Q3SXL4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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